Genetic causes of congenital diarrhea and enteropathy come into focus
Congenital diarrheas and enteropathies are rare and devastating for infants and children. Treatments have consisted mainly of fluid and nutritional management. But in recent years, targeted dietary and drug therapies have emerged based on genetic discoveries. Now, research led by Boston Children’s Hospital, The Hospital for Sick Children in Toronto, and UCLA takes a major ... Read More about Genetic causes of congenital diarrhea and enteropathy come into focus
Genomic sequencing transforms a life: Asa’s story
Asa Cibelli feels like he’s been reborn. The straight-A middle schooler plays basketball and football, does jiu jitsu, is learning guitar, and can solve a Rubik’s cube in 40 seconds flat. But he once wondered if he’d ever feel better. From birth, Asa experienced chronic abdominal pain and severe diarrhea. The many doctors he saw ... Read More about Genomic sequencing transforms a life: Asa’s story
Could the falcine sinus hold the key to vein of Galen outcomes?
A Boston Children’s Hospital study uncovers how fetal magnetic resonance imaging (MRI) could be a game-changer in predicting outcomes for infants born with vein of Galen malformations (VOGMs). The study, just published in Stroke, focused on the width of the falcine sinus (FS) — the fetal structure that channels blood from the malformation back to ... Read More about Could the falcine sinus hold the key to vein of Galen outcomes?
The thalamus: A potential therapeutic target for neurodevelopmental disorders
Years ago, as a neurology resident, Chinfei Chen, MD, PhD, cared for a 20-year-old woman who had experienced a very small stroke, affecting only the thalamus. “It was so tiny that she wouldn’t have noticed any symptoms had the stroke been in any other area of the brain,” says Chen, who is now an investigator ... Read More about The thalamus: A potential therapeutic target for neurodevelopmental disorders
Partnering diet and intestinal microbes to protect against GI disease
Despite being an everyday necessity, nutrition is something of a black box. We know that many plant-based foods are good for us, but we don’t always know why. Our intestinal microbiome, which helps break down these foods once we consume them, is another black box. What role do our gut bacteria play? Seth Rakoff-Nahoum, MD, ... Read More about Partnering diet and intestinal microbes to protect against GI disease
Past patient outcomes could help single-ventricle surgery decisions
When considering whether a child who has a single-ventricle heart defect would benefit more from biventricular repair or the Fontan procedure, heart specialists have lacked a key tool to guide them: data that shows possible long-term health risks of each surgical option. But Boston Children’s heart specialists — who perform biventricular repair more often than any other pediatric hospital — ... Read More about Past patient outcomes could help single-ventricle surgery decisions
Pediatric high-grade gliomas: Research reveals effective targeting with avapritinib
Pediatric high-grade gliomas, particularly H3K27M diffuse midline gliomas (DMG), are aggressive malignant brain tumors with a poor prognosis. Previous research suggests that platelet-derived growth factor receptor alpha (PDGFRA) appears to play a multifaceted role in the pathogenesis of both adult and pediatric high-grade gliomas. Not only are genetic alterations of PDGFRA common in patients with ... Read More about Pediatric high-grade gliomas: Research reveals effective targeting with avapritinib
A better treatment for endometriosis could lie in migraine medications
Endometriosis is a common, mysterious, often painful condition in which tissue similar to the uterine lining grows outside the uterus, forming lesions in locations such as the fallopian tubes, ovaries, and pelvis. These lesions can cause severe pain during periods, heavy menstrual bleeding, pelvic or abdominal pain, and sometimes painful bowel movements and urination. Existing ... Read More about A better treatment for endometriosis could lie in migraine medications
Modeling urinary tract disorders on a chip: Zohreh Izadifar
When a new tissue sample arrives from the Department of Urology, the Boston Children’s Hospital lab of Zohreh Izadifar, PhD springs into action. The tissue, from a child with urinary tract pathology, is whisked into the tissue culture room. Under a hood, lab members Dasvit Shetty, PhD, and Gretchen Carpenter, MSc, carefully isolate the cells ... Read More about Modeling urinary tract disorders on a chip: Zohreh Izadifar
A surprising link between Crohn’s disease and the Epstein-Barr virus
Crohn’s disease, a debilitating inflammatory bowel disease, has many known contributing factors, including bacterial changes in the microbiome that foster an inflammatory environment. Now, for the first time, Crohn’s disease been tied to a virus — specifically, Epstein-Barr virus (EBV), best known for causing infectious mononucleosis (mono). Researchers had already observed increased levels of EBV ... Read More about A surprising link between Crohn’s disease and the Epstein-Barr virus